| Item | Value/Recommendation | Evidence type (guideline/cohort/registry/case report) | Source (citation id) |
|---|---|---|---|
| Disease name | WAGR syndrome; increasingly reframed as **WAGR spectrum disorder** because manifestations extend beyond the classic acronym | Registry synthesis / review | (pqac-00000011, pqac-00000017) |
| OMIM identifier | **OMIM #194072** | Case series / review | (pqac-00000004) |
| Common expansion of acronym | Wilms tumor, Aniridia, Genitourinary anomalies, and Range of developmental delays; older literature may use “mental retardation/intellectual disability” | Registry / review | (pqac-00000011, pqac-00000004) |
| Synonym / subtype term | **WAGRO** used when childhood-onset obesity is present, typically with deletion extending to **BDNF** | Case report / registry | (pqac-00000004, pqac-00000011) |
| Core genomic lesion | Contiguous **11p13 deletion** involving **WT1** and **PAX6** is the defining lesion for WAGR syndrome | Cohort / review / case report | (pqac-00000002, pqac-00000004, pqac-00000005) |
| Core genes | **WT1** (tumor suppressor, kidney/gonadal development) and **PAX6** (ocular/neurodevelopment) | Cohort / review / case report | (pqac-00000002, pqac-00000004, pqac-00000005) |
| Modifier / extension gene | **BDNF** deletion occurs in about **~50%** of registry respondents with molecular data and is associated with obesity; WAGRO concept reflects this extension | Registry | (pqac-00000011, pqac-00000016) |
| Other candidate genes in expanded phenotype | Additional genes in larger deletions may contribute to behavioral/cognitive or nonclassic phenotypes (e.g., PRRG4 and others discussed in region-based studies) | Review / genotype-phenotype study | (pqac-00000001, pqac-00000007) |
| Lifetime Wilms tumor risk in WAGR | **45%–60%** | Guideline / cohort | (pqac-00000008, pqac-00000002) |
| Registry frequency of Wilms tumor / nephrogenic rests | **42/77 (54.5%)** reported Wilms tumor and/or nephrogenic rests | Registry | (pqac-00000016) |
| Registry frequency of Wilms tumor specifically | **36/77 (46.8%)** developed Wilms tumor | Registry | (pqac-00000016) |
| Age at WT/nephroblastomatosis diagnosis | Median **22 months** (range **6–44 months**) in SIOP-RTSG series | Cohort | (pqac-00000002) |
| Bilateral WT frequency | **37.5%** bilateral disease in SIOP-RTSG cohort | Cohort | (pqac-00000002) |
| Metastatic / anaplastic WT in cohort | No metastases or anaplasia reported in the SIOP-RTSG cohort; nephrogenic rests were common (**78.9%**) | Cohort | (pqac-00000002) |
| WT outcomes | 5-year event-free survival **84.3%**; overall survival **91.2%** | Cohort | (pqac-00000002) |
| BDNF deletion frequency | Registry molecular-response subset: **27/54 (~50%)** selected BDNF deletion | Registry | (pqac-00000016) |
| Obesity among those with reported BDNF deletion | **17/26 (~65%)** reported obesity; **7/22 (~32%)** reported obesity with short stature | Registry | (pqac-00000012) |
| Cardiometabolic burden | **~75%** of the WAGR Discovery Cohort had **obesity and/or hypertension** | Registry | (pqac-00000014) |
| Kidney involvement | More than half of participants had at least one kidney condition; CAKUT may be underappreciated in WAGR | Registry | (pqac-00000014) |
| CAKUT frequency | **38.5%** reported in registry-derived summary | Registry synthesis | (pqac-00000015) |
| Recurrent UTI association | Among 15 with recurrent UTIs, **9 (60.0%)** had a CAKUT-consistent issue | Registry | (pqac-00000012) |
| Cognitive/learning problems | **69/78 (88.5%)** | Registry | (pqac-00000012) |
| Cognitive impairment | **45/78 (57.7%)** | Registry | (pqac-00000012) |
| Global developmental delay | **44/78 (56.4%)** | Registry | (pqac-00000012) |
| Autism spectrum disorder | **19/76 (25.0%)** | Registry | (pqac-00000012) |
| ADD/ADHD | **18/76 (23.7%)** | Registry | (pqac-00000012) |
| Anxiety disorder | **30/68 (44.1%)** | Registry | (pqac-00000012) |
| Neurologic / muscle tone abnormalities | Abnormal muscle control/tone **53/77 (68.8%)**; seizures **12/66 (18.1%)**; neurological problems **28/74 (37.8%)** | Registry | (pqac-00000013) |
| Ocular involvement | Eye issues were universal in registry participants with available data (**85/85, 100%**); aniridia was nearly universal | Registry | (pqac-00000013, pqac-00000016) |
| AACR 2024 WT surveillance principle | WAGR WT risk is high and surveillance follows standard WT predisposition recommendations | Guideline | (pqac-00000008, pqac-00000010) |
| AACR 2024 WT surveillance modality and interval | **Renal ultrasound every 3 months until the 7th birthday** for WT-predisposition syndromes without hepatoblastoma risk | Guideline | (pqac-00000010) |
| Rationale for AACR age cutoff | Surveillance window chosen to cover the age range in which **~95%** of WT develop | Guideline | (pqac-00000010) |
| Registry care recommendation for WT surveillance | **Renal ultrasound every 3 months below age 8 years** for all patients considered at risk; more frequent if abnormalities suspected | Registry care recommendation | (pqac-00000009) |
| Registry long-term renal follow-up | After age 8, renal ultrasound frequency should be individualized; at least **annual** renal ultrasound recommended to monitor CKD risk | Registry care recommendation | (pqac-00000009) |
| Additional renal concern | Because WAGR carries significant CKD risk, kidney-health monitoring should continue into adolescence and beyond | Guideline / registry care recommendation | (pqac-00000008, pqac-00000009) |


*Table: This table consolidates identifiers, genomic basis, quantitative clinical risks, phenotype frequencies, and current Wilms tumor surveillance recommendations for WAGR syndrome/WAGR spectrum disorder. It is useful as a compact evidence map for populating disease knowledge-base fields with cited values.*